DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA

DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA

Mucoviscidosis is a monogenic autosomal recessive caused by the CFTR gene mutations and characterized by pronounced genetic heterogeneity and clinical polymorphism, which emphasizes the need in comprehensive diagnosis and molecular-genetic verification of the final diagnosis. Quality and duration of...

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Bibliographic Details
Main Authors: A. A. Baranov, N. I. Kapranov, N. Yu. Kashirskaya, L. S. Namazova-Baranova, V. D. Sherman, O. I. Simonova, A. Yu. Tomilova, K. V. Sevost'yanov, A. M. Pushkov, A. L. Vladykin, N. V. Shatokhin
Format: Article
Language:Russian
Published: Union of pediatricians of Russia 2014-11-01
Series:Педиатрическая фармакология
Subjects:
mucoviscidosis
diagnosis
molecular-genetic analysis
sequencing
dna diagnostic sets
mutations
cftr
children
Online Access:https://www.pedpharma.ru/jour/article/view/31
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